SCN2A-Related Disorders

SCN2A-Related Disorders

AngličtinaPevná väzbaTlač na objednávku
Abbott Megan
Cambridge University Press
EAN: 9781009530330
Tlač na objednávku
Predpokladané dodanie v piatok, 24. januára 2025
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Podrobné informácie

SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
EAN 9781009530330
ISBN 100953033X
Typ produktu Pevná väzba
Vydavateľ Cambridge University Press
Dátum vydania 2. januára 2025
Stránky 96
Jazyk English
Krajina United Kingdom
Autori Abbott Megan; Bender, Kevin J.; Brunklaus, Andreas; Demarest, Scott; Egan, Shawn; Haviland, Isabel; Kearney, Jennifer A.; Olson, Heather E.; Sanders, Stephan J.; SanInocencio, Christina; Schust Myers, Leah; Symonds Joseph; Thompson, Christopher H.
Ilustrácie Worked examples or Exercises
Editori George, Jr., Alfred L.
Séria Elements in Genetics in Epilepsy